Luca Valenti, MD, Assistant Professor, Internal Medicine, Fondazione IRCCS Ca’ Granda Ospedale Policlinico Milano, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Pad. Granelli, via F Sforza 35, 20122 Milano, Italy. luca.valenti@unimi.it
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Review
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Gastroenterol. Nov 7, 2013; 19(41): 6969-6978 Published online Nov 7, 2013. doi: 10.3748/wjg.v19.i41.6969
PNPLA3 I148M polymorphism and progressive liver disease
Paola Dongiovanni, Benedetta Donati, Roberta Fares, Rosa Lombardi, Rosellina Margherita Mancina, Stefano Romeo, Luca Valenti
Paola Dongiovanni, Benedetta Donati, Roberta Fares, Rosa Lombardi, Luca Valenti, Internal Medicine, Fondazione IRCCS Ca’ Granda Ospedale Policlinico Milano, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milano, Italy
Rosellina Margherita Mancina, Stefano Romeo, Sahlgrenska Center for Cardiovascular and Metabolic Research/Wallenberg Laboratory, Department of Molecular and Clinical Medicine, University of Gothenburg, 40530 Gothenburg, Sweden
Stefano Romeo, Clinical Nutrition Unit, Department of Medical and Surgical Sciences, University Magna Graecia, 88100 Catanzaro, Italy
Author contributions: Romeo S and Valenti L contributed equally to this paper; all the authors contributed to literature review and writing of this paper.
Supported by Associazione Malattie Metaboliche del Fegato ONLUS (Non-profit organization for the Study and Care of Metabolic Liver Diseases); Centro Studi Malattie Metaboliche del Fegato, Università degli Studi di Milano
Correspondence to: Luca Valenti, MD, Assistant Professor, Internal Medicine, Fondazione IRCCS Ca’ Granda Ospedale Policlinico Milano, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Pad. Granelli, via F Sforza 35, 20122 Milano, Italy. luca.valenti@unimi.it
Telephone: +39-25-0320278 Fax: +39-25-0320296
Received: June 27, 2013 Revised: August 16, 2013 Accepted: September 15, 2013 Published online: November 7, 2013 Processing time: 141 Days and 18.9 Hours
Core Tip
Core tip: The 148 Isoleucine to Methionine protein variant (I148M) of patatin-like phospholipase domain-containing 3 (PNPLA3) has recently been identified as a major determinant of liver fat content. Several studies conducted in different ethnicities confirmed that I148M influences the full spectrum of liver damage: from simple steatosis to nonalcoholic steatohepatitis and progressive fibrosis to hepatocellular carcinoma. Furthermore, I148M turned out to represent a major determinant of progression of alcohol related steatohepatitis, and to influence fibrosis progression and related clinical outcomes in chronic hepatitis C virus hepatitis, as well as other in liver diseases. All in all, studies suggest that the PNPLA3 I148M polymorphism may represent a general modifier of fibrogenesis in liver diseases.
